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| Severe early-onset obesity v4.3 | DYRK1B |
Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DYRK1B. Tag Q2_23_NHS_review tag was added to gene: DYRK1B. |
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| Severe early-onset obesity v4.3 | DYRK1B | Achchuthan Shanmugasundram Classified gene: DYRK1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.3 | DYRK1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence (>10 unrelated cases) available in support of promoting this gene to GREEN rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.3 | DYRK1B | Achchuthan Shanmugasundram Gene: dyrk1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.2 | DYRK1B | Achchuthan Shanmugasundram Phenotypes for gene: DYRK1B were changed from obesity; diabetes to Abdominal obesity-metabolic syndrome 3, OMIM:615812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.1 | DYRK1B | Achchuthan Shanmugasundram reviewed gene: DYRK1B: Rating: ; Mode of pathogenicity: None; Publications: 34193236, 34786696; Phenotypes: Abdominal obesity-metabolic syndrome 3, OMIM:615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.1 | DYRK1B |
Tracy Lester gene: DYRK1B was added gene: DYRK1B was added to Severe early-onset obesity. Sources: NHS GMS Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1B were set to 34193236; 34786696; 24827035 Phenotypes for gene: DYRK1B were set to obesity; diabetes Penetrance for gene: DYRK1B were set to unknown Review for gene: DYRK1B was set to GREEN Added comment: This gene is green on the diabetes panel but there are cases in the literature who also have early-onset obesity 34193236: performed whole-exome sequencing in the probands from 2 of 3 multigenerational Iranian families with metabolic syndrome and early-onset coronary artery disease and identified a heterozygous missense mutation in the DYRK1B gene (R102C; 604556.0001) that segregated with disease in all 3 families. 34786696: report a splice variant in a 5yr old with severe ID, autism, obesity and seizures, inherited from affected father and also segregates in 2 affected sisters. RNA studies confimed aberrant splicing leading to LOF 24827035: patients with type 2 diabetes and obesity, identified 2 missense that co-segregated with full penetrance (R252H and K68Q). Age-dependent variable expressivity described with central obesity and insulin resistance apparent in childhood and morbid obesity, severe triglyceridemia and labile type 2 diabetes before age 40. Youngest aged 11. Sources: NHS GMS |
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